Canonical Allele Identifier: CA516728145

Gene: OGT

Linked Data

• dbSNP Id: rs2040335518
• MyVariant Identifiers: chrX:g.70775173C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555323C>T , CM000685.2:g.71555323C>T	GRCh38
NC_000023.10:g.70775173C>T , CM000685.1:g.70775173C>T	GRCh37
NC_000023.9:g.70691898C>T	NCBI36
NG_015875.1:g.27262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.793C>T	ENSP00000514559.1:p.Leu265=
ENST00000699750.1:c.*721C>T	ENSP00000514560.1:n.*721C>T
ENST00000699751.1:n.1278+731C>T
ENST00000699779.1:c.*3730C>T	ENSP00000514585.1:n.*3730C>T
ENST00000699780.1:c.729-631C>T	ENSP00000514586.1:n.729-631C>T
ENST00000699781.1:c.*333-631C>T	ENSP00000514587.1:n.*333-631C>T
ENST00000699782.1:c.763C>T	ENSP00000514588.1:p.Leu255=
ENST00000699783.1:c.832C>T	ENSP00000514589.1:p.Leu278=
ENST00000699784.1:c.832C>T	ENSP00000514590.1:p.Leu278=
ENST00000699785.1:c.*867C>T	ENSP00000514591.1:n.*867C>T
ENST00000373719.8:c.862C>T MANE Select	ENSP00000362824.3:p.Leu288=
ENST00000373701.7:c.832C>T	ENSP00000362805.3:p.Leu278=
ENST00000373719.7:c.862C>T	ENSP00000362824.3:p.Leu288=
ENST00000459760.1:n.239C>T
ENST00000488174.5:n.4166-631C>T
NM_181672.2:c.862C>T	NP_858058.1:p.Leu288=
NM_181673.2:c.832C>T	NP_858059.1:p.Leu278=
XM_005262308.1:c.-219-631C>T	XP_005262365.1:n.-219-631C>T
XM_017029908.1:c.-219-631C>T	XP_016885397.1:n.-219-631C>T
XM_024452467.1:c.-219-631C>T	XP_024308235.1:n.-219-631C>T
NM_181672.3:c.862C>T MANE Select	NP_858058.1:p.Leu288=
NM_181673.3:c.832C>T	NP_858059.1:p.Leu278=